Identification of a novel FERMT1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients
BackgroundKindler Syndrome (KS, OMIM #173650), a rare autosomal recessive genetic disorder, is characterized by a spectrum of symptoms such as cutaneous fragility, blistering, photosensitivity, and mucosal involvement. These symptoms result from variations in the FERMT1 gene (Fermitin family member...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Book |
| Published: |
Frontiers Media S.A.,
2024-09-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
|---|---|
| Copy 1 | Available |